Variant Details

Variant: esv3586104

Internal ID

6973624

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr1:54876250..54877913	hg38	UCSC Ensembl
Inner	chr1:54876279..54877884	hg38	UCSC Ensembl
Outer	chr1:54876221..54877942	hg38	UCSC Ensembl
	chr1:55341923..55343586	hg19	UCSC Ensembl
Inner	chr1:55341952..55343557	hg19	UCSC Ensembl
Outer	chr1:55341894..55343615	hg19	UCSC Ensembl

Cytoband

1p32.3

Allele length

Assembly	Allele length
hg38	1664
hg19	1664

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv9935460, essv9935424, essv9935383, essv9935366, essv9935375, essv9935386, essv9935498, essv9935429, essv9935506, essv9935398, essv9935511, essv9935491, essv9935469, essv9935428, essv9935477, essv9935515, essv9935483, essv9935425, essv9935463, essv9935369, essv9935499, essv9935440, essv9935419, essv9935384, essv9935455, essv9935427, essv9935517, essv9935525, essv9935484, essv9935408, essv9935412, essv9935527, essv9935414, essv9935385, essv9935453, essv9935514, essv9935371, essv9935472, essv9935457, essv9935444, essv9935409, essv9935423, essv9935395, essv9935461, essv9935431, essv9935379, essv9935448, essv9935500, essv9935394, essv9935488, essv9935442, essv9935392, essv9935378, essv9935505, essv9935422, essv9935531, essv9935512, essv9935433, essv9935456, essv9935370, essv9935436, essv9935523, essv9935521, essv9935481, essv9935407, essv9935400, essv9935380, essv9935486, essv9935413, essv9935501, essv9935367, essv9935520, essv9935510, essv9935449, essv9935417, essv9935490, essv9935435, essv9935401, essv9935526, essv9935494, essv9935451, essv9935411, essv9935480, essv9935476, essv9935368, essv9935493, essv9935382, essv9935418, essv9935443, essv9935421, essv9935406, essv9935403, essv9935467, essv9935393, essv9935381, essv9935466, essv9935388, essv9935447, essv9935391, essv9935504, essv9935471, essv9935377, essv9935532, essv9935503, essv9935462, essv9935487, essv9935473, essv9935502, essv9935452, essv9935397, essv9935445, essv9935387, essv9935465, essv9935459, essv9935432, essv9935513, essv9935507, essv9935426, essv9935450, essv9935438, essv9935519, essv9935492, essv9935474, essv9935518, essv9935482, essv9935420, essv9935372, essv9935374, essv9935475, essv9935430, essv9935390, essv9935389, essv9935489, essv9935470, essv9935524, essv9935373, essv9935446, essv9935528, essv9935468, essv9935495, essv9935415, essv9935479, essv9935399, essv9935478, essv9935402, essv9935441, essv9935458, essv9935454, essv9935410, essv9935496, essv9935434, essv9935416, essv9935522, essv9935516, essv9935405, essv9935509, essv9935396, essv9935485, essv9935404, essv9935439, essv9935508, essv9935529, essv9935530, essv9935464, essv9935376, essv9935437, essv9935497

Samples

NA18965, NA18997, HG03690, HG00403, NA19058, NA19397, NA20877, NA18947, NA19066, NA18647, NA19332, HG02375, HG02026, NA18979, NA18641, HG02061, NA18528, HG03115, NA19350, NA18639, HG01806, HG03455, HG02058, NA19057, NA18959, NA18616, HG00654, NA18526, HG03679, HG01809, NA19067, NA18969, HG03095, NA19374, HG03603, NA19005, NA18940, NA19319, HG02185, HG02407, HG01853, HG03808, HG02087, HG02383, NA18567, HG02521, HG01843, NA18942, HG03604, HG02085, NA19088, HG00590, NA18749, HG00867, HG00632, NA18977, HG01813, NA19075, NA18986, NA19087, HG04238, HG02190, HG03744, HG00406, NA18864, HG02180, NA18975, NA18954, NA18539, NA18951, HG03902, HG03844, HG00560, HG03908, NA19082, NA19070, HG00596, HG00557, HG01857, HG03786, HG02397, HG00701, NA18991, HG02076, HG00584, HG00583, HG03775, HG02522, NA20875, NA18572, NA18976, NA18534, HG04180, HG01808, HG03781, NA20876, HG02364, NA18573, NA19084, HG01870, HG04155, NA20856, HG02081, HG03672, HG00704, HG01865, HG03991, HG00410, HG02408, HG02399, HG04200, HG01811, NA18953, HG03720, NA19003, NA18978, HG01858, HG01812, HG00476, NA18542, HG02684, NA18533, HG01878, NA19072, NA18950, HG02355, HG00580, NA18941, NA19090, HG02391, HG01598, HG03488, HG01798, HG02019, NA18615, HG02188, HG00620, HG03103, HG02398, HG03565, HG00672, HG02379, HG04140, HG03157, HG00409, HG01846, NA18994, HG01600, HG02182, NA19080, HG03894, NA18972, HG02186, NA18983, HG02774, HG00595, NA18989, HG03856, HG02465, HG01863, HG00759, HG02351, HG01869, NA18522, NA18740, HG03985, NA18549

Known Genes

DHCR24

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3586104

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	167
Observed Complex	0
Frequency	n/a